Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724785
2.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med
; 22(3): 538-546, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31723249
3.
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(8): 1899, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327536
4.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(3): 601-607, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245509
5.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Genet Med
; 20(1): 98-108, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28661489
6.
Genetic Counselors' and Genetic Counseling Students' Attitudes Around the Clinical Doctorate and Other Advanced Educational Options for Genetic Counselors: A Report from the Genetic Counseling Advanced Degree Task Force.
J Genet Couns
; 24(4): 626-34, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25352337
7.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med
; 15(698): eabo3189, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256937
8.
Vaginal microbiota of women with frequent vulvovaginal candidiasis.
Infect Immun
; 77(9): 4130-5, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19528218
9.
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Ann Clin Transl Neurol
; 6(4): 655-668, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31019990
10.
Identification of novel candidate disease genes from de novo exonic copy number variants.
Genome Med
; 9(1): 83, 2017 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28934986